MESP2 p.Ser32=
c.96C>T · rs1288330833 · VCV1575155
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00138%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.57 | GERP -4.6, phastCons 0.026 |
| Overall | ||
| CADD | 6.096 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00138%
African / African-American · 1/72,710 alleles
Overall
0.00013%
2/1,534,328 alleles · very rare
exomes 1/1,382,074 · genomes 1/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00138% | 72,710 |
| European (non-Finnish) | 8.73e-05% | 1,146,127 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MESP2
- Protein
- p.Ser32=
- Coding
- c.96C>T
- MANE Select
- NM_001039958
- dbSNP
- rs1288330833
- Type
- single nucleotide variant
- Location
- chr15:89776453 (GRCh38)
- Gene constraint
- LOEUF 1.656 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.92
- Residue 32
- the 'disordered' region
Similar variants
- MESP2 p.Gly77Ter Pathogenic/Likely pathogenic ★★ same type
- MESP2 p.Gly81Ter Pathogenic/Likely pathogenic ★★ same type
- MESP2 p.Ser39Ter Pathogenic/Likely pathogenic ★★ same type
- MESP2 p.Ser42Ter Pathogenic/Likely pathogenic ★★ same type
- MESP2 p.Ser4Ter Pathogenic/Likely pathogenic ★★ same type
- MESP2 c.*107T>C Uncertain significance ★★ same type
- MESP2 p.Ala360Thr Uncertain significance ★★ ⚠ same type
- MESP2 p.Ala74Thr Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mesp2-p-ser32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown